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| Nomenclature |
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Symbol:
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Tyrc-h
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Name:
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tyrosinase;
himalayan
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MGI ID: |
MGI:1855979 |
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Gene:
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Tyr
Location:
Chr7:87427405-87493411 bp, - strand
Genetic Position: Chr7,
49.01 cM
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Tyrc-h/ Tyrc-h
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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(DBA/2 x AKR/J)F1
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: The mutation in the himalayan allele was found to be an A to G point mutation at nucleotide 1259 that results in an amino acid change at position 420 from histidine to arginine. (J:9824)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Melanin granules of the retina are indistinguishable from those of chinchilla or of wild-type homozygotes (J:5001). Pigment synthesis in himalayan mice is temperature-sensitive; pigment develops in growing hairs of mice housed at 15oC but not in those housed at 30oC (J:6275). In explanation of this effect, it has been shown that tyrosinase in these mice is heat-labile (J:12173), being maximally active at well below body temperature. Tyrosinase of Tyrch homozygotes is strongly bound by an inhibitor at 37oC but not at lower temperatures (J:6508).
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| References |
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Original: |
J:24726
Green MC,
"New mutant: Himalayan, symbol c<h>."
Mouse News Lett 1959;21():46
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All: |
12 reference(s)
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Analysis Tools
